Gene: NF1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199474751
rs199474751
NF1
1 1.000 0.120 17 31335026 missense variant G/A;C snv 0.800 1.000 24 1990 2014
dbSNP: rs199474778
rs199474778
NF1
1 1.000 0.120 17 31227549 stop gained G/A;C snv 0.800 1.000 24 1990 2014
dbSNP: rs199474790
rs199474790
NF1
1 1.000 0.120 17 31258488 missense variant A/C;G snv 0.800 1.000 24 1990 2014
dbSNP: rs199474792
rs199474792
NF1
1 1.000 0.120 17 31334883 missense variant T/C snv 0.800 1.000 24 1990 2014
dbSNP: rs199474730
rs199474730
NF1
1 1.000 0.120 17 31227547 missense variant T/C snv 7.0E-06 0.800 1.000 23 1990 2014
dbSNP: rs199474748
rs199474748
NF1
1 1.000 0.120 17 31229158 missense variant G/A snv 0.800 1.000 23 1990 2015
dbSNP: rs199474761
rs199474761
NF1
1 1.000 0.120 17 31226517 missense variant T/C snv 0.800 1.000 23 1990 2016
dbSNP: rs199474752
rs199474752
NF1
2 1.000 0.120 17 31163376 missense variant G/A;C snv 0.800 1.000 21 1990 2014
dbSNP: rs137854564
rs137854564
NF1
1 1.000 0.120 17 31235630 missense variant T/C snv 0.800 1.000 20 1990 2014
dbSNP: rs199474728
rs199474728
NF1
1 1.000 0.120 17 31159083 missense variant G/A snv 7.0E-06 0.800 1.000 20 1990 2014
dbSNP: rs199474791
rs199474791
NF1
2 1.000 0.120 17 31334879 missense variant T/C snv 0.800 1.000 20 1990 2014
dbSNP: rs267606598
rs267606598
NF1
1 1.000 0.120 17 31337514 missense variant T/A;C snv 4.0E-06 0.800 1.000 4 2004 2014
dbSNP: rs137854552
rs137854552
NF1
7 0.807 0.280 17 31334927 stop gained C/T snv 0.730 1.000 9 1990 2008
dbSNP: rs137854562
rs137854562
NF1
4 0.925 0.120 17 31235623 stop gained C/T snv 0.720 1.000 6 2000 2015
dbSNP: rs786202112
rs786202112
NF1
7 0.827 0.280 17 31327839 missense variant G/A snv 0.710 1.000 13 2000 2014
dbSNP: rs772295894
rs772295894
NF1
7 0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 0.710 1.000 12 1995 2016
dbSNP: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.710 1.000 9 1997 2015
dbSNP: rs760703505
rs760703505
NF1
5 0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06 0.710 1.000 7 1997 2019
dbSNP: rs866445127
rs866445127
NF1
7 0.851 0.240 17 31352348 stop gained C/T snv 0.710 1.000 7 1994 2014
dbSNP: rs1060500368
rs1060500368
NF1
1 1.000 0.120 17 31229157 missense variant G/C snv 0.710 1.000 6 2003 2018
dbSNP: rs797045139
rs797045139
NF1
4 0.882 0.120 17 31327718 missense variant C/A;G;T snv 0.710 1.000 6 2003 2015
dbSNP: rs768638173
rs768638173
NF1
6 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2015 2015
dbSNP: rs149055633
rs149055633
NF1
1 1.000 0.120 17 31352319 missense variant C/T snv 5.6E-05 6.3E-05 0.700 1.000 24 1990 2014
dbSNP: rs199474740
rs199474740
NF1
1 1.000 0.120 17 31232092 missense variant A/G snv 1.2E-05 5.5E-05 0.700 1.000 24 1990 2014
dbSNP: rs199474763
rs199474763
NF1
1 1.000 0.120 17 31227539 missense variant A/C;T snv 0.700 1.000 24 1990 2014